Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7248668
rs7248668
3 0.925 0.080 19 39253181 upstream gene variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2011
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1188975135
rs1188975135
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2006 2006
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.040 1.000 4 2001 2011
dbSNP: rs57302492
rs57302492
1 1.000 2 70831099 missense variant T/A snv 7.0E-02 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1276738522
rs1276738522
1 1.000 12 6232664 start lost A/G snv 4.9E-06 0.010 1.000 1 2001 2001
dbSNP: rs749569169
rs749569169
1 1.000 7 29512676 missense variant A/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2001 2011
dbSNP: rs781172058
rs781172058
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1194919682
rs1194919682
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1272938495
rs1272938495
1 1.000 2 136115225 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs371074389
rs371074389
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs774027752
rs774027752
1 1.000 19 40845472 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1292288729
rs1292288729
1 1.000 19 41009375 missense variant T/C snv 7.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs28399499
rs28399499
6 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2011 2011
dbSNP: rs10892151
rs10892151
3 1.000 11 117661016 intron variant C/T snv 9.7E-02 0.010 < 0.001 1 2011 2011